### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RRM2B) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "{{iNote}}" "RRM2B" "ribonucleotide reductase M2 B (TP53 inducible)" "8" "q23.1" "unknown" "NC_000008.10" "UD_132084477851" "" "" "" "1" "1" "17296" "50484" "604712" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "0" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "0" "00001" "2013-11-07 13:50:45" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## Transcripts ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "{{chrom}}" "00000284" "RRM2B" "transcript variant 3" "001" "NM_001172478.1" "" "NP_001165949.1" "" "" "" "-244" "4532" "900" "103251346" "103216729" "00001" "2013-11-07 13:58:54" "" "" "" "8" "00000285" "RRM2B" "transcript variant 1" "002" "NM_015713.4" "" "NP_056528.2" "" "" "" "-244" "4688" "1056" "103251346" "103216729" "00001" "2013-11-07 13:58:54" "" "" "" "8" "00000286" "RRM2B" "transcript variant 2" "003" "NM_001172477.1" "" "NP_001165948.1" "" "" "" "-9" "4904" "1272" "103251059" "103216729" "00001" "2013-11-07 13:58:54" "" "" "" "8" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00037" "612075" "Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3)" "612075" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" "00049" "PEOA5" "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5, PEOA5" "613077" "" "" "" "00001" "2013-11-12 14:00:00" "00001" "2014-08-13 14:58:12" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "RRM2B" "00037" "RRM2B" "00049" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 122 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000001257" "0" "55" "8" "103220155" "103220155" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:09:16" "RRM2B_000020" "g.103220155G>C" "" "" "" "" "subst" "0" ";" "1.580" "" "" "" "" "MSCV_0001257" "" "0000001258" "0" "55" "8" "103220235" "103220235" "dup" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 08:20:58" "RRM2B_000019" "g.103220235dup" "" "" "" "" "dup" "0" ";" "4.880" "" "" "" "" "MSCV_0001258" "" "0000001259" "0" "55" "8" "103220251" "103220251" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:07:54" "RRM2B_000017" "g.103220251del" "" "" "" "" "del" "0" ";" "1.030" "" "" "" "" "MSCV_0001259" "" "0000001260" "0" "55" "8" "103220281" "103220281" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:07:54" "RRM2B_000018" "g.103220281del" "" "" "" "" "del" "0" ";" "-1.690" "" "" "" "" "MSCV_0001260" "" "0000001261" "0" "99" "8" "103220438" "103220438" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:04:24" "RRM2B_000009" "g.103220438G>A" "" "{PMID:19664747:19664747}" "" "rs121918310" "subst" "0" "; clinVar; Ensembl;" "2.720" "" "" "" "" "MSCV_0001261" "" "0000001262" "0" "99" "8" "103225057" "103225057" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 08:20:58" "RRM2B_000010" "g.103225057G>A" "" "{PMID:17486094:17486094}" "" "rs121918307" "subst" "0" "; clinVar; Ensembl;" "5.640" "" "" "" "" "MSCV_0001262" "" "0000001263" "0" "99" "8" "103225061" "103225061" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-03-17 07:02:17" "RRM2B_000011" "g.103225061C>G" "" "" "" "rs182614164" "subst" "0" "; ensembl;" "5.640" "" "" "" "" "MSCV_0001263" "" "0000001264" "0" "99" "8" "103225090" "103225090" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:04:26" "RRM2B_000012" "g.103225090C>T" "" "" "" "" "subst" "0" ";" "5.790" "" "" "" "" "MSCV_0001264" "" "0000001265" "0" "99" "8" "103226364" "103226364" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-05-27 07:31:42" "RRM2B_000013" "g.103226364C>A" "" "{PMID:17486094:17486094}" "" "rs121918309" "subst" "0" "; clinVar; Ensembl;" "5.480" "" "" "" "" "MSCV_0001265" "" "0000001266" "0" "99" "8" "103226385" "103226385" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:04:27" "RRM2B_000014" "g.103226385C>A" "" "{PMID:19138848:19138848}" "" "rs121918311" "subst" "0" "; clinVar; Ensembl;" "5.480" "" "" "" "" "MSCV_0001266" "" "0000001267" "0" "55" "8" "103231119" "103231119" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:04:28" "RRM2B_000015" "g.103231119C>T" "" "" "" "" "subst" "0" ";" "5.370" "" "" "" "" "MSCV_0001267" "" "0000001268" "0" "99" "8" "103231146" "103231146" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-12-21 15:32:51" "RRM2B_000016" "g.103231146C>T" "" "{PMID:17486094:17486094}" "" "rs121918308" "subst" "0" "; clinVar; Ensembl;" "5.370" "" "" "" "" "MSCV_0001268" "" "0000001269" "0" "99" "8" "103237206" "103237206" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-01-07 01:47:52" "RRM2B_000008" "g.103237206C>T" "" "{PMID:19667227:19667227}" "" "rs267607024" "subst" "0" "; clinVar; Ensembl;" "5.520" "" "" "" "" "MSCV_0001269" "" "0000001270" "0" "55" "8" "103237231" "103237231" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-06 20:53:41" "RRM2B_000001" "g.103237231G>A" "" "" "" "" "subst" "0" ";" "5.520" "" "" "" "" "MSCV_0001270" "" "0000001271" "0" "99" "8" "103237239" "103237239" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-10 01:02:20" "RRM2B_000002" "g.103237239C>T" "" "{PMID:19667227:19667227}" "" "rs267607025" "subst" "0" "; clinVar; Ensembl;" "5.520" "" "" "" "" "MSCV_0001271" "" "0000001272" "0" "99" "8" "103237248" "103237248" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-06-23 11:58:52" "RRM2B_000003" "g.103237248T>C" "" "" "" "NA" "subst" "0" ";" "5.520" "" "" "" "" "MSCV_0001272" "" "0000001273" "0" "99" "8" "103244459" "103244459" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-02-08 07:27:22" "RRM2B_000004" "g.103244459C>G" "" "" "" "rs200273673" "subst" "0" ";" "5.610" "" "" "" "" "MSCV_0001273" "" "0000001274" "0" "99" "8" "103244459" "103244459" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:47:01" "RRM2B_000005" "g.103244459C>T" "" "" "" "rs200273673" "subst" "0" ";" "5.610" "" "" "" "" "MSCV_0001274" "" "0000001275" "0" "99" "8" "103244484" "103244484" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:47:02" "RRM2B_000006" "g.103244484G>A" "" "" "" "" "subst" "0" ";" "5.500" "" "" "" "" "MSCV_0001275" "" "0000001276" "0" "99" "8" "103251055" "103251055" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:47:02" "RRM2B_000007" "g.103251055C>T" "" "" "" "" "subst" "0" ";" "3.470" "" "" "" "" "MSCV_0001276" "" "0000003378" "0" "00" "8" "103220235" "103220236" "ins" "51" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2023-04-24 08:20:58" "RRM2B_000021" "g.103220235_103220236insTT" "" "" "" "" "ins" "0" ";" "" "" "" "" "" "MSCV_0003378" "" "0000022451" "0" "11" "8" "103216768" "103216768" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:20:51" "RRM2B_000095" "g.103216768C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022451" "" "0000022452" "0" "33" "8" "103216806" "103216806" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:20:53" "RRM2B_000096" "g.103216806A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022452" "" "0000022453" "0" "11" "8" "103216834" "103216834" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:21:26" "RRM2B_000097" "g.103216834C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022453" "" "0000022454" "0" "33" "8" "103216872" "103216872" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:21:28" "RRM2B_000098" "g.103216872T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022454" "" "0000022455" "0" "11" "8" "103216898" "103216898" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:21:31" "RRM2B_000099" "g.103216898G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022455" "" "0000022456" "0" "11" "8" "103216966" "103216966" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:21:34" "RRM2B_000100" "g.103216966G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022456" "" "0000022457" "0" "55" "8" "103217072" "103217072" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:21:38" "RRM2B_000101" "g.103217072T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022457" "" "0000022458" "0" "55" "8" "103217095" "103217095" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:21:40" "RRM2B_000102" "g.103217095C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022458" "" "0000022459" "0" "55" "8" "103217236" "103217236" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-08-30 21:15:02" "RRM2B_000103" "g.103217236A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022459" "" "0000022460" "0" "33" "8" "103217283" "103217283" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:42:57" "RRM2B_000085" "g.103217283C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022460" "" "0000022461" "0" "33" "8" "103217357" "103217358" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:43:00" "RRM2B_000086" "g.103217357_103217358del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022461" "" "0000022462" "0" "55" "8" "103217383" "103217383" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:43:03" "RRM2B_000087" "g.103217383T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022462" "" "0000022463" "0" "55" "8" "103217401" "103217401" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:43:06" "RRM2B_000088" "g.103217401C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022463" "" "0000022464" "0" "11" "8" "103217482" "103217482" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:43:08" "RRM2B_000089" "g.103217482T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022464" "" "0000022465" "0" "33" "8" "103217539" "103217539" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:43:11" "RRM2B_000090" "g.103217539T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022465" "" "0000022466" "0" "55" "8" "103217552" "103217552" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-10 01:04:41" "RRM2B_000091" "g.103217552C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022466" "" "0000022467" "0" "55" "8" "103217639" "103217639" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-06-14 05:09:50" "RRM2B_000092" "g.103217639T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022467" "" "0000022468" "0" "11" "8" "103217686" "103217686" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:38:26" "RRM2B_000065" "g.103217686T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022468" "" "0000022469" "0" "11" "8" "103217695" "103217695" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-03-05 08:25:17" "RRM2B_000066" "g.103217695A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022469" "" "0000022470" "0" "00" "8" "103217748" "103217748" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:38:33" "RRM2B_000067" "g.103217748del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022470" "" "0000022471" "0" "55" "8" "103217848" "103217848" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:38:36" "RRM2B_000068" "g.103217848A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022471" "" "0000022472" "0" "00" "8" "103217860" "103217864" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:38:39" "RRM2B_000069" "g.103217860_103217864del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022472" "" "0000022473" "0" "55" "8" "103217951" "103217951" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:38:42" "RRM2B_000070" "g.103217951G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022473" "" "0000022474" "0" "55" "8" "103218033" "103218033" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-10 00:02:35" "RRM2B_000071" "g.103218033T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022474" "" "0000022475" "0" "33" "8" "103218125" "103218125" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:38:48" "RRM2B_000072" "g.103218125T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022475" "" "0000022476" "0" "33" "8" "103218209" "103218210" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:38:51" "RRM2B_000073" "g.103218209_103218210insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022476" "" "0000022477" "0" "33" "8" "103218225" "103218225" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-02 22:02:49" "RRM2B_000074" "g.103218225C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022477" "" "0000022478" "0" "11" "8" "103218264" "103218264" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:24:29" "RRM2B_000042" "g.103218264A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022478" "" "0000022479" "0" "11" "8" "103218326" "103218326" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:24:32" "RRM2B_000043" "g.103218326T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022479" "" "0000022480" "0" "33" "8" "103218408" "103218408" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:24:36" "RRM2B_000044" "g.103218408T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022480" "" "0000022481" "0" "11" "8" "103218466" "103218467" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:24:39" "RRM2B_000045" "g.103218466_103218467insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022481" "" "0000022482" "0" "55" "8" "103218644" "103218644" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-08-12 22:16:50" "RRM2B_000046" "g.103218644A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022482" "" "0000022483" "0" "11" "8" "103218688" "103218688" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-02 21:48:23" "RRM2B_000047" "g.103218688A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022483" "" "0000022484" "0" "33" "8" "103218760" "103218760" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:24:51" "RRM2B_000048" "g.103218760T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022484" "" "0000022485" "0" "33" "8" "103218765" "103218765" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:24:54" "RRM2B_000049" "g.103218765A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022485" "" "0000022486" "0" "11" "8" "103218873" "103218873" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-08-14 00:01:25" "RRM2B_000050" "g.103218873C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022486" "" "0000022487" "0" "33" "8" "103219010" "103219010" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-08-13 03:02:20" "RRM2B_000022" "g.103219010A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022487" "" "0000022488" "0" "11" "8" "103219084" "103219084" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:25:03" "RRM2B_000051" "g.103219084T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022488" "" "0000022489" "0" "11" "8" "103219240" "103219240" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:25:09" "RRM2B_000052" "g.103219240A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022489" "" "0000022490" "0" "11" "8" "103219363" "103219363" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-02 21:52:00" "RRM2B_000053" "g.103219363T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022490" "" "0000022491" "0" "55" "8" "103219492" "103219492" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:25:16" "RRM2B_000054" "g.103219492C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022491" "" "0000022492" "0" "11" "8" "103219495" "103219495" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:25:21" "RRM2B_000055" "g.103219495A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022492" "" "0000022493" "0" "55" "8" "103219506" "103219506" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:25:24" "RRM2B_000056" "g.103219506G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022493" "" "0000022494" "0" "33" "8" "103219544" "103219544" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:25:27" "RRM2B_000057" "g.103219544C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022494" "" "0000022495" "0" "33" "8" "103219573" "103219573" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:25:31" "RRM2B_000058" "g.103219573A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022495" "" "0000022496" "0" "11" "8" "103219629" "103219629" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:25:34" "RRM2B_000059" "g.103219629T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022496" "" "0000022497" "0" "33" "8" "103219809" "103219809" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:25:37" "RRM2B_000060" "g.103219809C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022497" "" "0000022498" "0" "33" "8" "103220033" "103220033" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:25:40" "RRM2B_000061" "g.103220033C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022498" "" "0000022499" "0" "55" "8" "103220114" "103220114" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:25:44" "RRM2B_000023" "g.103220114C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022499" "" "0000022500" "0" "00" "8" "103220287" "103220287" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:25:47" "RRM2B_000062" "g.103220287del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022500" "" "0000022501" "0" "55" "8" "103220288" "103220288" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:25:51" "RRM2B_000063" "g.103220288T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022501" "" "0000022502" "0" "33" "8" "103220350" "103220350" "subst" "35" "0.000307598" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-08-15 21:46:48" "RRM2B_000064" "g.103220350C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022502" "" "0000022503" "0" "99" "8" "103220371" "103220371" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:38:56" "RRM2B_000075" "g.103220371G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022503" "" "0000022504" "0" "99" "8" "103220438" "103220438" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-02 22:26:14" "RRM2B_000009" "g.103220438G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001261" "" "0000022505" "0" "99" "8" "103220451" "103220452" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:39:02" "RRM2B_000076" "g.103220451_103220452insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022505" "" "0000022506" "0" "99" "8" "103220465" "103220465" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-08-23 03:37:35" "RRM2B_000077" "g.103220465C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022506" "" "0000022507" "0" "99" "8" "103220467" "103220467" "del" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 08:20:58" "RRM2B_000078" "g.103220467del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022507" "" "0000022508" "0" "99" "8" "103220468" "103220468" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-08-18 19:42:22" "RRM2B_000079" "g.103220468A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022508" "" "0000022509" "0" "99" "8" "103220497" "103220497" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-08-15 12:37:43" "RRM2B_000080" "g.103220497del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022509" "" "0000022510" "0" "33" "8" "103220504" "103220504" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:39:19" "RRM2B_000081" "g.103220504C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022510" "" "0000022511" "0" "99" "8" "103225057" "103225057" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-02 21:59:14" "RRM2B_000010" "g.103225057G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001262" "" "0000022512" "0" "99" "8" "103225061" "103225061" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-07 19:25:21" "RRM2B_000011" "g.103225061C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001263" "" "0000022513" "0" "11" "8" "103225125" "103225125" "subst" "35" "0.0000769704" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-06-10 02:49:57" "RRM2B_000024" "g.103225125G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022513" "" "0000022514" "0" "33" "8" "103225126" "103225126" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-02 22:29:53" "RRM2B_000025" "g.103225126A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022514" "" "0000022515" "0" "55" "8" "103226315" "103226315" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:21:58" "RRM2B_000026" "g.103226315C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022515" "" "0000022516" "0" "99" "8" "103226364" "103226364" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:22:01" "RRM2B_000013" "g.103226364C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001265" "" "0000022517" "0" "99" "8" "103226385" "103226385" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:22:04" "RRM2B_000014" "g.103226385C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001266" "" "0000022518" "0" "77" "8" "103231090" "103231091" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:22:08" "RRM2B_000027" "g.103231090_103231091insCTT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022518" "" "0000022519" "0" "99" "8" "103231094" "103231094" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-05-28 17:18:59" "RRM2B_000028" "g.103231094C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022519" "" "0000022520" "0" "99" "8" "103231142" "103231142" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:22:13" "RRM2B_000029" "g.103231142del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022520" "" "0000022521" "0" "99" "8" "103231143" "103231143" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-08-12 22:36:33" "RRM2B_000030" "g.103231143C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022521" "" "0000022522" "0" "99" "8" "103231145" "103231145" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 08:20:58" "RRM2B_000031" "g.103231145T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022522" "" "0000022523" "0" "99" "8" "103231146" "103231146" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:22:22" "RRM2B_000016" "g.103231146C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001268" "" "0000022524" "0" "99" "8" "103231170" "103231170" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-08-20 21:30:13" "RRM2B_000032" "g.103231170T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022524" "" "0000022525" "0" "33" "8" "103236284" "103236284" "subst" "35" "0.000384438" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:22:27" "RRM2B_000033" "g.103236284T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022525" "" "0000022526" "0" "55" "8" "103236321" "103236321" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:22:31" "RRM2B_000034" "g.103236321T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022526" "" "0000022527" "0" "99" "8" "103237177" "103237177" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:22:35" "RRM2B_000035" "g.103237177C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022527" "" "0000022528" "0" "99" "8" "103237200" "103237200" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:22:38" "RRM2B_000036" "g.103237200A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022528" "" "0000022529" "0" "99" "8" "103237206" "103237206" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:22:41" "RRM2B_000008" "g.103237206C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001269" "" "0000022530" "0" "99" "8" "103237239" "103237239" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-08-17 10:32:31" "RRM2B_000002" "g.103237239C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001271" "" "0000022531" "0" "99" "8" "103237240" "103237240" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:22:46" "RRM2B_000037" "g.103237240G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022531" "" "0000022532" "0" "99" "8" "103237248" "103237248" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:22:49" "RRM2B_000038" "g.103237248T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022532" "" "0000022533" "0" "99" "8" "103237248" "103237248" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:22:52" "RRM2B_000003" "g.103237248T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001272" "" "0000022534" "0" "99" "8" "103238259" "103238259" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:22:55" "RRM2B_000039" "g.103238259C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022534" "" "0000022535" "0" "11" "8" "103238260" "103238260" "subst" "35" "0.0213748" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-10 01:07:57" "RRM2B_000040" "g.103238260G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022535" "" "0000022536" "0" "99" "8" "103244391" "103244391" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:23:00" "RRM2B_000041" "g.103244391A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022536" "" "0000022537" "0" "99" "8" "103244459" "103244459" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:23:03" "RRM2B_000005" "g.103244459C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001274" "" "0000022538" "0" "99" "8" "103244459" "103244459" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-08-29 02:31:55" "RRM2B_000004" "g.103244459C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001273" "" "0000022539" "0" "99" "8" "103244460" "103244460" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:39:30" "RRM2B_000082" "g.103244460G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022539" "" "0000022540" "0" "99" "8" "103251055" "103251055" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:39:33" "RRM2B_000007" "g.103251055C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001276" "" "0000022541" "0" "33" "8" "103251190" "103251190" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:39:36" "RRM2B_000083" "g.103251190G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022541" "" "0000022542" "0" "11" "8" "103251205" "103251205" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:39:39" "RRM2B_000084" "g.103251205C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022542" "" "0000022543" "0" "11" "8" "103251255" "103251255" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:43:19" "RRM2B_000093" "g.103251255C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022543" "" "0000022544" "0" "11" "8" "103251259" "103251259" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:43:22" "RRM2B_000094" "g.103251259C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022544" "" "0000026647" "0" "00" "8" "103225090" "103225090" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-01-10 21:23:19" "RRM2B_000012" "g.103225090C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026648" "0" "00" "8" "103231055" "103231055" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:05:20" "RRM2B_000107" "g.103231055A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026649" "0" "00" "8" "103231064" "103231064" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:05:36" "RRM2B_000108" "g.103231064T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026650" "0" "00" "8" "103231120" "103231120" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:16:55" "RRM2B_000105" "g.103231120A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026651" "0" "00" "8" "103237137" "103237137" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:17:10" "RRM2B_000106" "g.103237137G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026652" "0" "00" "8" "103238212" "103238214" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2020-08-12 03:23:27" "RRM2B_000104" "g.103238212_103238214del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026653" "0" "00" "8" "103244484" "103244484" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:42:58" "RRM2B_000006" "g.103244484G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 366 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000001257" "00000284" "55" "1106" "0" "1106" "0" "c.*206C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001257" "00000285" "55" "1262" "0" "1262" "0" "c.*206C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001257" "00000286" "55" "1478" "0" "1478" "0" "c.*206C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001258" "00000284" "55" "1026" "0" "1026" "0" "c.*126dup" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001258" "00000285" "55" "1182" "0" "1182" "0" "c.*126dup" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001258" "00000286" "55" "1398" "0" "1398" "0" "c.*126dup" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001259" "00000284" "55" "1010" "0" "1010" "0" "c.*110del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001259" "00000285" "55" "1166" "0" "1166" "0" "c.*110del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001259" "00000286" "55" "1382" "0" "1382" "0" "c.*110del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001260" "00000284" "55" "980" "0" "980" "0" "c.*80del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001260" "00000285" "55" "1136" "0" "1136" "0" "c.*80del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001260" "00000286" "55" "1352" "0" "1352" "0" "c.*80del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001261" "00000284" "99" "823" "0" "823" "0" "c.823C>T" "8/8" "p.(Arg275*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001261" "00000285" "99" "979" "0" "979" "0" "c.979C>T" "9/9" "p.(Arg327*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001261" "00000286" "99" "1195" "0" "1195" "0" "c.1195C>T" "9/9" "p.(Arg399*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001262" "00000284" "99" "694" "0" "694" "0" "c.694C>T" "7/8" "p.(Gln232*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001262" "00000285" "99" "850" "0" "850" "0" "c.850C>T" "8/9" "p.(Gln284*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001262" "00000286" "99" "1066" "0" "1066" "0" "c.1066C>T" "8/9" "p.(Gln356*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001263" "00000284" "77" "690" "0" "690" "0" "c.690G>C" "7/8" "p.(Met230Ile)" "r.(?)" "probably_damaging(0.913)" "" "missense_variant" "" "" "tolerated(0.08)" "0000001263" "00000285" "77" "846" "0" "846" "0" "c.846G>C" "8/9" "p.(Met282Ile)" "r.(?)" "possibly_damaging(0.901)" "" "missense_variant" "" "" "tolerated(0.08)" "0000001263" "00000286" "77" "1062" "0" "1062" "0" "c.1062G>C" "8/9" "p.(Met354Ile)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001264" "00000284" "55" "661" "0" "661" "0" "c.661G>A" "7/8" "p.(Gly221Ser)" "r.(?)" "benign(0.01)" "" "missense_variant" "" "" "tolerated(1)" "0000001264" "00000285" "55" "817" "0" "817" "0" "c.817G>A" "8/9" "p.(Gly273Ser)" "r.(?)" "benign(0.005)" "" "missense_variant" "" "" "tolerated(1)" "0000001264" "00000286" "55" "1033" "0" "1033" "0" "c.1033G>A" "8/9" "p.(Gly345Ser)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001265" "00000284" "99" "551" "0" "551" "0" "c.551G>T" "6/8" "p.(Cys184Phe)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0)" "0000001265" "00000285" "99" "707" "0" "707" "0" "c.707G>T" "7/9" "p.(Cys236Phe)" "r.(?)" "probably_damaging(0.989)" "" "missense_variant" "" "" "deleterious(0)" "0000001265" "00000286" "99" "923" "0" "923" "0" "c.923G>T" "7/9" "p.(Cys308Phe)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001266" "00000284" "99" "530" "0" "530" "0" "c.530G>T" "6/8" "p.(Gly177Val)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000001266" "00000285" "99" "686" "0" "686" "0" "c.686G>T" "7/9" "p.(Gly229Val)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000001266" "00000286" "99" "902" "0" "902" "0" "c.902G>T" "7/9" "p.(Gly301Val)" "r.(?)" "-" "" "missense_variant,splice_region_variant" "" "" "-" "0000001267" "00000284" "55" "451" "0" "451" "0" "c.451G>A" "5/8" "p.(Ala151Thr)" "r.(?)" "probably_damaging(0.991)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001267" "00000285" "55" "607" "0" "607" "0" "c.607G>A" "6/9" "p.(Ala203Thr)" "r.(?)" "probably_damaging(0.993)" "" "missense_variant" "" "" "deleterious(0)" "0000001267" "00000286" "55" "823" "0" "823" "0" "c.823G>A" "6/9" "p.(Ala275Thr)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001268" "00000284" "99" "424" "0" "424" "0" "c.424G>A" "5/8" "p.(Glu142Lys)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000001268" "00000285" "99" "580" "0" "580" "0" "c.580G>A" "6/9" "p.(Glu194Lys)" "r.(?)" "probably_damaging(0.991)" "" "missense_variant" "" "" "deleterious(0)" "0000001268" "00000286" "99" "796" "0" "796" "0" "c.796G>A" "6/9" "p.(Glu266Lys)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001269" "00000284" "99" "206" "0" "206" "0" "c.206G>A" "3/8" "p.(Arg69His)" "r.(?)" "possibly_damaging(0.616)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001269" "00000285" "99" "362" "0" "362" "0" "c.362G>A" "4/9" "p.(Arg121His)" "r.(?)" "possibly_damaging(0.466)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001269" "00000286" "99" "578" "0" "578" "0" "c.578G>A" "4/9" "p.(Arg193His)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001270" "00000284" "55" "181" "0" "181" "0" "c.181C>T" "3/8" "p.(Gln61*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001270" "00000285" "55" "337" "0" "337" "0" "c.337C>T" "4/9" "p.(Gln113*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001270" "00000286" "55" "553" "0" "553" "0" "c.553C>T" "4/9" "p.(Gln185*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001271" "00000284" "99" "173" "0" "173" "0" "c.173G>A" "3/8" "p.(Arg58His)" "r.(?)" "probably_damaging(0.974)" "" "missense_variant" "" "" "tolerated(0.06)" "0000001271" "00000285" "99" "329" "0" "329" "0" "c.329G>A" "4/9" "p.(Arg110His)" "r.(?)" "benign(0.304)" "" "missense_variant" "" "" "tolerated(0.07)" "0000001271" "00000286" "99" "545" "0" "545" "0" "c.545G>A" "4/9" "p.(Arg182His)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001272" "00000284" "00" "166" "-2" "166" "-2" "c.166-2A>G" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000001272" "00000285" "00" "322" "-2" "322" "-2" "c.322-2A>G" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000001272" "00000286" "00" "538" "-2" "538" "-2" "c.538-2A>G" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000001273" "00000284" "00" "49" "-6197" "49" "-6197" "c.49-6197G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001273" "00000285" "00" "122" "0" "122" "0" "c.122G>C" "2/4" "p.(Arg41Pro)" "r.(?)" "probably_damaging(0.933)" "" "missense_variant,splice_region_variant,NMD_transcript_variant" "" "" "-" "0000001273" "00000286" "00" "338" "0" "338" "0" "c.338G>C" "2/9" "p.(Arg113Pro)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001274" "00000284" "00" "49" "-6197" "49" "-6197" "c.49-6197G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001274" "00000285" "00" "122" "0" "122" "0" "c.122G>A" "2/4" "p.(Arg41Gln)" "r.(?)" "possibly_damaging(0.776)" "" "missense_variant,splice_region_variant,NMD_transcript_variant" "" "" "-" "0000001274" "00000286" "00" "338" "0" "338" "0" "c.338G>A" "2/9" "p.(Arg113Gln)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001275" "00000284" "55" "49" "-6222" "49" "-6222" "c.49-6222C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001275" "00000285" "55" "97" "0" "97" "0" "c.97C>T" "2/4" "p.(Pro33Ser)" "r.(?)" "probably_damaging(0.932)" "" "missense_variant,NMD_transcript_variant" "" "" "-" "0000001275" "00000286" "55" "313" "0" "313" "0" "c.313C>T" "2/9" "p.(Pro105Ser)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000001276" "00000284" "55" "48" "0" "48" "0" "c.48G>A" "1/8" "p.(=)" "r.(=)" "-" "" "splice_region_variant,synonymous_variant" "" "" "-" "0000001276" "00000285" "55" "48" "0" "48" "0" "c.48G>A" "1/8" "p.(=)" "r.(=)" "-" "" "splice_region_variant,synonymous_variant" "" "" "-" "0000001276" "00000286" "55" "-5" "0" "-5" "0" "c.-5G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003378" "00000284" "00" "1026" "0" "1025" "0" "c.*125_*126insAA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003378" "00000285" "00" "1182" "0" "1181" "0" "c.*125_*126insAA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000003378" "00000286" "00" "1398" "0" "1397" "0" "c.*125_*126insAA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022451" "00000284" "00" "4493" "0" "4493" "0" "c.*3593G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022451" "00000285" "00" "4649" "0" "4649" "0" "c.*3593G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022451" "00000286" "00" "4865" "0" "4865" "0" "c.*3593G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022452" "00000284" "00" "4455" "0" "4455" "0" "c.*3555T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022452" "00000285" "00" "4611" "0" "4611" "0" "c.*3555T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022452" "00000286" "00" "4827" "0" "4827" "0" "c.*3555T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022453" "00000284" "00" "4427" "0" "4427" "0" "c.*3527G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022453" "00000285" "00" "4583" "0" "4583" "0" "c.*3527G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022453" "00000286" "00" "4799" "0" "4799" "0" "c.*3527G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022454" "00000284" "00" "4389" "0" "4389" "0" "c.*3489A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022454" "00000285" "00" "4545" "0" "4545" "0" "c.*3489A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022454" "00000286" "00" "4761" "0" "4761" "0" "c.*3489A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022455" "00000284" "00" "4363" "0" 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"0000022490" "00000286" "00" "2270" "0" "2270" "0" "c.*998A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022491" "00000284" "00" "1769" "0" "1769" "0" "c.*869G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022491" "00000285" "00" "1925" "0" "1925" "0" "c.*869G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022491" "00000286" "00" "2141" "0" "2141" "0" "c.*869G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022492" "00000284" "00" "1766" "0" "1766" "0" "c.*866T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022492" "00000285" "00" "1922" "0" "1922" "0" "c.*866T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022492" "00000286" "00" "2138" "0" "2138" "0" "c.*866T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022493" "00000284" "00" "1755" "0" "1755" "0" "c.*855C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022493" "00000285" "00" "1911" "0" "1911" "0" "c.*855C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022493" "00000286" "00" "2127" "0" "2127" "0" "c.*855C>G" "" "p.(=)" "r.(=)" "" "" "" 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"" "" "" "" "" "-" "0000022497" "00000285" "00" "1608" "0" "1608" "0" "c.*552G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022497" "00000286" "00" "1824" "0" "1824" "0" "c.*552G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022498" "00000284" "00" "1228" "0" "1228" "0" "c.*328G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022498" "00000285" "00" "1384" "0" "1384" "0" "c.*328G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022498" "00000286" "00" "1600" "0" "1600" "0" "c.*328G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022499" "00000284" "00" "1147" "0" "1147" "0" "c.*247G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022499" "00000285" "00" "1303" "0" "1303" "0" "c.*247G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022499" "00000286" "00" "1519" "0" "1519" "0" "c.*247G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022500" "00000284" "00" "974" "0" "974" "0" "c.*74del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022500" "00000285" "00" "1130" "0" "1130" "0" "c.*74del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022500" "00000286" "00" "1346" "0" "1346" "0" "c.*74del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022501" "00000284" "00" "973" "0" "973" "0" "c.*73A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022501" "00000285" "00" "1129" "0" "1129" "0" "c.*73A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022501" "00000286" "00" "1345" "0" "1345" "0" "c.*73A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022502" "00000284" "00" "911" "0" "911" "0" "c.*11G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022502" "00000285" "00" "1067" "0" "1067" "0" "c.*11G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022502" "00000286" "00" "1283" "0" "1283" "0" "c.*11G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022503" "00000284" "00" "890" "0" "890" "0" "c.890C>G" "" "p.(Ala297Gly)" "r.(?)" "" "" "" "" "" "-" "0000022503" "00000285" "00" "1046" "0" "1046" "0" "c.1046C>G" "" "p.(Ala349Gly)" "r.(?)" "" "" "" "" "" "-" "0000022503" "00000286" "00" "1262" "0" "1262" "0" "c.1262C>G" "" "p.(Ala421Gly)" "r.(?)" "" "" "" "" "" "-" "0000022504" "00000284" "00" "823" "0" "823" "0" "c.823C>T" "" "p.(Arg275*)" "r.(?)" "" "" "" "" "" "-" "0000022504" "00000285" "00" "979" "0" "979" "0" "c.979C>T" "" "p.(Arg327*)" "r.(?)" "" "" "" "" "" "-" "0000022504" "00000286" "00" "1195" "0" "1195" "0" "c.1195C>T" "" "p.(Arg399*)" "r.(?)" "" "" "" "" "" "-" "0000022505" "00000284" "00" "809" "0" "810" "0" "c.809_810insA" "" "p.(Asn270Lysfs*4)" "r.(?)" "" "" "" "" "" "-" "0000022505" "00000285" "00" "965" "0" "966" "0" "c.965_966insA" "" "p.(Asn322Lysfs*4)" "r.(?)" "" "" "" "" "" "-" "0000022505" "00000286" "00" "1181" "0" "1182" "0" "c.1181_1182insA" "" "p.(Asn394Lysfs*4)" "r.(?)" "" "" "" "" "" "-" "0000022506" "00000284" "00" "796" "0" "796" "0" "c.796G>T" "" "p.(Glu266*)" "r.(?)" "" "" "" "" "" "-" "0000022506" "00000285" "00" "952" "0" "952" "0" "c.952G>T" "" "p.(Glu318*)" "r.(?)" "" "" "" "" "" "-" "0000022506" "00000286" "00" "1168" "0" "1168" "0" "c.1168G>T" "" "p.(Glu390*)" "r.(?)" "" "" "" "" "" "-" "0000022507" "00000284" "00" "794" "0" "794" "0" "c.794del" "" "p.(Leu265*)" "r.(?)" "" "" "" "" "" "-" "0000022507" "00000285" "00" "950" "0" "950" "0" "c.950del" "" "p.(Leu317*)" "r.(?)" "" "" "" "" "" "-" "0000022507" "00000286" "00" "1166" "0" "1166" "0" "c.1166del" "" "p.(Leu389*)" "r.(?)" "" "" "" "" "" "-" "0000022508" "00000284" "00" "793" "0" "793" "0" "c.793T>G" "" "p.(Leu265Val)" "r.(?)" "" "" "" "" "" "-" "0000022508" "00000285" "00" "949" "0" "949" "0" "c.949T>G" "" "p.(Leu317Val)" "r.(?)" "" "" "" "" "" "-" "0000022508" "00000286" "00" "1165" "0" "1165" "0" "c.1165T>G" "" "p.(Leu389Val)" "r.(?)" "" "" "" "" "" "-" "0000022509" "00000284" "00" "764" "0" "764" "0" "c.764del" "" "p.(Asn255Ilefs*11)" "r.(?)" "" "" "" "" "" "-" "0000022509" "00000285" "00" "920" "0" "920" "0" "c.920del" "" "p.(Asn307Ilefs*11)" "r.(?)" "" "" "" "" "" "-" "0000022509" "00000286" "00" "1136" "0" "1136" "0" "c.1136del" "" "p.(Asn379Ilefs*11)" "r.(?)" "" "" "" "" "" "-" "0000022510" "00000284" "00" "757" "0" "757" "0" "c.757G>T" "" "p.(Ala253Ser)" "r.(?)" "" "" "" "" "" "-" "0000022510" "00000285" "00" "913" "0" "913" "0" "c.913G>T" "" "p.(Ala305Ser)" "r.(?)" "" "" "" "" "" "-" "0000022510" "00000286" "00" "1129" "0" "1129" "0" "c.1129G>T" "" "p.(Ala377Ser)" "r.(?)" "" "" "" "" "" "-" "0000022511" "00000284" "00" "694" "0" "694" "0" "c.694C>T" "" "p.(Gln232*)" "r.(?)" "" "" "" "" "" "-" "0000022511" "00000285" "00" "850" "0" "850" "0" "c.850C>T" "" "p.(Gln284*)" "r.(?)" "" "" "" "" "" "-" "0000022511" "00000286" "00" "1066" "0" "1066" "0" "c.1066C>T" "" "p.(Gln356*)" "r.(?)" "" "" "" "" "" "-" "0000022512" "00000284" "00" "690" "0" "690" "0" "c.690G>C" "" "p.(Met230Ile)" "r.(?)" "" "" "" "" "" "-" "0000022512" "00000285" "00" "846" "0" "846" "0" "c.846G>C" "" "p.(Met282Ile)" "r.(?)" "" "" "" "" "" "-" "0000022512" "00000286" "00" "1062" "0" "1062" "0" "c.1062G>C" "" "p.(Met354Ile)" "r.(?)" "" "" "" "" "" "-" "0000022513" "00000284" "00" "634" "-8" "634" "-8" "c.634-8C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022513" "00000285" "00" "790" "-8" "790" "-8" "c.790-8C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022513" "00000286" "00" "1006" "-8" "1006" "-8" "c.1006-8C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022514" "00000284" "00" "634" "-9" "634" "-9" "c.634-9T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022514" "00000285" "00" "790" "-9" "790" "-9" "c.790-9T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022514" "00000286" "00" "1006" "-9" "1006" "-9" "c.1006-9T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022515" "00000284" "00" "600" "0" "600" "0" "c.600G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022515" "00000285" "00" "756" "0" "756" "0" "c.756G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022515" "00000286" "00" "972" "0" "972" "0" "c.972G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022516" "00000284" "00" "551" "0" "551" "0" "c.551G>T" "" "p.(Cys184Phe)" "r.(?)" "" "" "" "" "" "-" "0000022516" "00000285" "00" "707" "0" "707" "0" "c.707G>T" "" "p.(Cys236Phe)" "r.(?)" "" "" "" "" "" "-" "0000022516" "00000286" "00" "923" "0" "923" "0" "c.923G>T" "" "p.(Cys308Phe)" "r.(?)" "" "" "" "" "" "-" "0000022517" "00000284" "00" "530" "0" "530" "0" "c.530G>T" "" "p.(Gly177Val)" "r.(?)" "" "" "" "" "" "-" "0000022517" "00000285" "00" "686" "0" "686" "0" "c.686G>T" "" "p.(Gly229Val)" "r.(?)" "" "" "" "" "" "-" "0000022517" "00000286" "00" "902" "0" "902" "0" "c.902G>T" "" "p.(Gly301Val)" "r.(?)" "" "" "" "" "" "-" "0000022518" "00000284" "00" "479" "0" "480" "0" "c.479_480insAAG" "" "p.(Gly160_Leu161insSer)" "r.(?)" "" "" "" "" "" "-" "0000022518" "00000285" "00" "635" "0" "636" "0" "c.635_636insAAG" "" "p.(Gly212_Leu213insSer)" "r.(?)" "" "" "" "" "" "-" "0000022518" "00000286" "00" "851" "0" "852" "0" "c.851_852insAAG" "" "p.(Gly284_Leu285insSer)" "r.(?)" "" "" "" "" "" "-" "0000022519" "00000284" "00" "476" "0" "476" "0" "c.476G>A" "" "p.(Arg159Lys)" "r.(?)" "" "" "" "" "" "-" "0000022519" "00000285" "00" "632" "0" "632" "0" "c.632G>A" "" "p.(Arg211Lys)" "r.(?)" "" "" "" "" "" "-" "0000022519" "00000286" "00" "848" "0" "848" "0" "c.848G>A" "" "p.(Arg283Lys)" "r.(?)" "" "" "" "" "" "-" "0000022520" "00000284" "00" "428" "0" "428" "0" "c.428del" "" "p.(Gly143Glufs*14)" "r.(?)" "" "" "" "" "" "-" "0000022520" "00000285" "00" "584" "0" "584" "0" "c.584del" "" "p.(Gly195Glufs*14)" "r.(?)" "" "" "" "" "" "-" "0000022520" "00000286" "00" "800" "0" "800" "0" "c.800del" "" "p.(Gly267Glufs*14)" "r.(?)" "" "" "" "" "" "-" "0000022521" "00000284" "00" "427" "0" "427" "0" "c.427G>A" "" "p.(Gly143Arg)" "r.(?)" "" "" "" "" "" "-" "0000022521" "00000285" "00" "583" "0" "583" "0" "c.583G>A" "" "p.(Gly195Arg)" "r.(?)" "" "" "" "" "" "-" "0000022521" "00000286" "00" "799" "0" "799" "0" "c.799G>A" "" "p.(Gly267Arg)" "r.(?)" "" "" "" "" "" "-" "0000022522" "00000284" "00" "425" "0" "425" "0" "c.425A>G" "" "p.(Glu142Gly)" "r.(?)" "" "" "" "" "" "-" "0000022522" "00000285" "00" "581" "0" "581" "0" "c.581A>G" "" "p.(Glu194Gly)" "r.(?)" "" "" "" "" "" "-" "0000022522" "00000286" "00" "797" "0" "797" "0" "c.797A>G" "" "p.(Glu266Gly)" "r.(?)" "" "" "" "" "" "-" "0000022523" "00000284" "00" "424" "0" "424" "0" "c.424G>A" "" "p.(Glu142Lys)" "r.(?)" "" "" "" "" "" "-" "0000022523" "00000285" "00" "580" "0" "580" "0" "c.580G>A" "" "p.(Glu194Lys)" "r.(?)" "" "" "" "" "" "-" "0000022523" "00000286" "00" "796" "0" "796" "0" "c.796G>A" "" "p.(Glu266Lys)" "r.(?)" "" "" "" "" "" "-" "0000022524" "00000284" "00" "400" "0" "400" "0" "c.400A>G" "" "p.(Arg134Gly)" "r.(?)" "" "" "" "" "" "-" "0000022524" "00000285" "00" "556" "0" "556" "0" "c.556A>G" "" "p.(Arg186Gly)" "r.(?)" "" "" "" "" "" "-" "0000022524" "00000286" "00" "772" "0" "772" "0" "c.772A>G" "" "p.(Arg258Gly)" "r.(?)" "" "" "" "" "" "-" "0000022525" "00000284" "00" "384" "0" "384" "0" "c.384A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022525" "00000285" "00" "540" "0" "540" "0" "c.540A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022525" "00000286" "00" "756" "0" "756" "0" "c.756A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022526" "00000284" "00" "347" "0" "347" "0" "c.347A>G" "" "p.(Lys116Arg)" "r.(?)" "" "" "" "" "" "-" "0000022526" "00000285" "00" "503" "0" "503" "0" "c.503A>G" "" "p.(Lys168Arg)" "r.(?)" "" "" "" "" "" "-" "0000022526" "00000286" "00" "719" "0" "719" "0" "c.719A>G" "" "p.(Lys240Arg)" "r.(?)" "" "" "" "" "" "-" "0000022527" "00000284" "00" "235" "0" "235" "0" "c.235G>A" "" "p.(Glu79Lys)" "r.(?)" "" "" "" "" "" "-" "0000022527" "00000285" "00" "391" "0" "391" "0" "c.391G>A" "" "p.(Glu131Lys)" "r.(?)" "" "" "" "" "" "-" "0000022527" "00000286" "00" "607" "0" "607" "0" "c.607G>A" "" "p.(Glu203Lys)" "r.(?)" "" "" "" "" "" "-" "0000022528" "00000284" "00" "212" "0" "212" "0" "c.212T>C" "" "p.(Phe71Ser)" "r.(?)" "" "" "" "" "" "-" "0000022528" "00000285" "00" "368" "0" "368" "0" "c.368T>C" "" "p.(Phe123Ser)" "r.(?)" "" "" "" "" "" "-" "0000022528" "00000286" "00" "584" "0" "584" "0" "c.584T>C" "" "p.(Phe195Ser)" "r.(?)" "" "" "" "" "" "-" "0000022529" "00000284" "00" "206" "0" "206" "0" "c.206G>A" "" "p.(Arg69His)" "r.(?)" "" "" "" "" "" "-" "0000022529" "00000285" "00" "362" "0" "362" "0" "c.362G>A" "" "p.(Arg121His)" "r.(?)" "" "" "" "" "" "-" "0000022529" "00000286" "00" "578" "0" "578" "0" "c.578G>A" "" "p.(Arg193His)" "r.(?)" "" "" "" "" "" "-" "0000022530" "00000284" "00" "173" "0" "173" "0" "c.173G>A" "" "p.(Arg58His)" "r.(?)" "" "" "" "" "" "-" "0000022530" "00000285" "00" "329" "0" "329" "0" "c.329G>A" "" "p.(Arg110His)" "r.(?)" "" "" "" "" "" "-" "0000022530" "00000286" "00" "545" "0" "545" "0" "c.545G>A" "" "p.(Arg182His)" "r.(?)" "" "" "" "" "" "-" "0000022531" "00000284" "00" "172" "0" "172" "0" "c.172C>T" "" "p.(Arg58Cys)" "r.(?)" "" "" "" "" "" "-" "0000022531" "00000285" "00" "328" "0" "328" "0" "c.328C>T" "" "p.(Arg110Cys)" "r.(?)" "" "" "" "" "" "-" "0000022531" "00000286" "00" "544" "0" "544" "0" "c.544C>T" "" "p.(Arg182Cys)" "r.(?)" "" "" "" "" "" "-" "0000022532" "00000284" "00" "166" "-2" "166" "-2" "c.166-2A>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022532" "00000285" "00" "322" "-2" "322" "-2" "c.322-2A>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022532" "00000286" "00" "538" "-2" "538" "-2" "c.538-2A>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022533" "00000284" "00" "166" "-2" "166" "-2" "c.166-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022533" "00000285" "00" "322" "-2" "322" "-2" "c.322-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022533" "00000286" "00" "538" "-2" "538" "-2" "c.538-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022534" "00000284" "00" "52" "0" "52" "0" "c.52G>A" "" "p.(Asp18Asn)" "r.(?)" "" "" "" "" "" "-" "0000022534" "00000285" "00" "208" "0" "208" "0" "c.208G>A" "" "p.(Asp70Asn)" "r.(?)" "" "" "" "" "" "-" "0000022534" "00000286" "00" "424" "0" "424" "0" "c.424G>A" "" "p.(Asp142Asn)" "r.(?)" "" "" "" "" "" "-" "0000022535" "00000284" "00" "51" "0" "51" "0" "c.51C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022535" "00000285" "00" "207" "0" "207" "0" "c.207C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022535" "00000286" "00" "423" "0" "423" "0" "c.423C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022536" "00000284" "00" "49" "-6129" "49" "-6129" "c.49-6129T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022536" "00000285" "00" "190" "0" "190" "0" "c.190T>C" "" "p.(Trp64Arg)" "r.(?)" "" "" "" "" "" "-" "0000022536" "00000286" "00" "406" "0" "406" "0" "c.406T>C" "" "p.(Trp136Arg)" "r.(?)" "" "" "" "" "" "-" "0000022537" "00000284" "00" "49" "-6197" "49" "-6197" "c.49-6197G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022537" "00000285" "00" "122" "0" "122" "0" "c.122G>A" "" "p.(Arg41Gln)" "r.(?)" "" "" "" "" "" "-" "0000022537" "00000286" "00" "338" "0" "338" "0" "c.338G>A" "" "p.(Arg113Gln)" "r.(?)" "" "" "" "" "" "-" "0000022538" "00000284" "00" "49" "-6197" "49" "-6197" "c.49-6197G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022538" "00000285" "00" "122" "0" "122" "0" "c.122G>C" "" "p.(Arg41Pro)" "r.(?)" "" "" "" "" "" "-" "0000022538" "00000286" "00" "338" "0" "338" "0" "c.338G>C" "" "p.(Arg113Pro)" "r.(?)" "" "" "" "" "" "-" "0000022539" "00000284" "00" "49" "-6198" "49" "-6198" "c.49-6198C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022539" "00000285" "00" "121" "0" "121" "0" "c.121C>T" "" "p.(Arg41Trp)" "r.(?)" "" "" "" "" "" "-" "0000022539" "00000286" "00" "337" "0" "337" "0" "c.337C>T" "" "p.(Arg113Trp)" "r.(?)" "" "" "" "" "" "-" "0000022540" "00000284" "00" "48" "0" "48" "0" "c.48G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022540" "00000285" "00" "48" "0" "48" "0" "c.48G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022540" "00000286" "00" "-5" "0" "-5" "0" "c.-5G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022541" "00000284" "00" "-88" "0" "-88" "0" "c.-88C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022541" "00000285" "00" "-88" "0" "-88" "0" "c.-88C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022541" "00000286" "00" "-9" "-131" "-9" "-131" "c.-140C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022542" "00000284" "00" "-103" "0" "-103" "0" "c.-103G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022542" "00000285" "00" "-103" "0" "-103" "0" "c.-103G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022542" "00000286" "00" "-9" "-146" "-9" "-146" "c.-155G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022543" "00000284" "00" "-153" "0" "-153" "0" "c.-153G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022543" "00000285" "00" "-153" "0" "-153" "0" "c.-153G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022543" "00000286" "00" "-9" "-196" "-9" "-196" "c.-205G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022544" "00000284" "00" "-157" "0" "-157" "0" "c.-157G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022544" "00000285" "00" "-157" "0" "-157" "0" "c.-157G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022544" "00000286" "00" "-9" "-200" "-9" "-200" "c.-209G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026647" "00000284" "00" "661" "0" "661" "0" "c.661G>A" "" "p.(Gly221Ser)" "r.(?)" "" "" "" "" "" "-" "0000026647" "00000285" "00" "817" "0" "817" "0" "c.817G>A" "" "p.(Gly273Ser)" "r.(?)" "" "" "" "" "" "-" "0000026647" "00000286" "00" "1033" "0" "1033" "0" "c.1033G>A" "" "p.(Gly345Ser)" "r.(?)" "" "" "" "" "" "-" "0000026648" "00000284" "00" "515" "0" "515" "0" "c.515T>G" "" "p.(Ile172Ser)" "r.(?)" "" "" "" "" "" "-" "0000026648" "00000285" "00" "671" "0" "671" "0" "c.671T>G" "" "p.(Ile224Ser)" "r.(?)" "" "" "" "" "" "-" "0000026648" "00000286" "00" "887" "0" "887" "0" "c.887T>G" "" "p.(Ile296Ser)" "r.(?)" "" "" "" "" "" "-" "0000026649" "00000284" "00" "506" "0" "506" "0" "c.506A>G" "" "p.(Asn169Ser)" "r.(?)" "" "" "" "" "" "-" "0000026649" "00000285" "00" "662" "0" "662" "0" "c.662A>G" "" "p.(Asn221Ser)" "r.(?)" "" "" "" "" "" "-" "0000026649" "00000286" "00" "878" "0" "878" "0" "c.878A>G" "" "p.(Asn293Ser)" "r.(?)" "" "" "" "" "" "-" "0000026650" "00000284" "00" "450" "0" "450" "0" "c.450T>A" "" "p.(Phe150Leu)" "r.(?)" "" "" "" "" "" "-" "0000026650" "00000285" "00" "606" "0" "606" "0" "c.606T>A" "" "p.(Phe202Leu)" "r.(?)" "" "" "" "" "" "-" "0000026650" "00000286" "00" "822" "0" "822" "0" "c.822T>A" "" "p.(Phe274Leu)" "r.(?)" "" "" "" "" "" "-" "0000026651" "00000284" "00" "275" "0" "275" "0" "c.275C>T" "" "p.(Thr92Ile)" "r.(?)" "" "" "" "" "" "-" "0000026651" "00000285" "00" "431" "0" "431" "0" "c.431C>T" "" "p.(Thr144Ile)" "r.(?)" "" "" "" "" "" "-" "0000026651" "00000286" "00" "647" "0" "647" "0" "c.647C>T" "" "p.(Thr216Ile)" "r.(?)" "" "" "" "" "" "-" "0000026652" "00000284" "00" "97" "0" "99" "0" "c.97_99del" "" "p.(Glu33del)" "r.(?)" "" "" "" "" "" "-" "0000026652" "00000285" "00" "253" "0" "255" "0" "c.253_255del" "" "p.(Glu85del)" "r.(?)" "" "" "" "" "" "-" "0000026652" "00000286" "00" "469" "0" "471" "0" "c.469_471del" "" "p.(Glu157del)" "r.(?)" "" "" "" "" "" "-" "0000026653" "00000284" "00" "49" "-6222" "49" "-6222" "c.49-6222C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026653" "00000285" "00" "97" "0" "97" "0" "c.97C>T" "" "p.(Pro33Ser)" "r.(?)" "" "" "" "" "" "-" "0000026653" "00000286" "00" "313" "0" "313" "0" "c.313C>T" "" "p.(Pro105Ser)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0